Learn About Treacher Collins Syndrome

What is the definition of Treacher Collins Syndrome?

Treacher Collins syndrome is a genetic condition that leads to problems with the structure of the face. Most cases are not passed down through families.

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What are the alternative names for Treacher Collins Syndrome?

Mandibulofacial dysostosis; Treacher Collins-Franceschetti syndrome

What are the causes of Treacher Collins Syndrome?

Changes to one of three genes, TCOF1, POLR1C, or POLR1D, can lead to Treacher Collins syndrome. The condition can be passed down through families (inherited). However, most of the time, there is not another affected family member.

This condition may vary in severity from generation to generation and from person to person.

What are the symptoms of Treacher Collins Syndrome?

Symptoms may include:

  • Outer part of the ears are abnormal or almost completely missing
  • Hearing loss
  • Very small jaw (micrognathia)
  • Very large mouth
  • Defect in the lower eyelid (coloboma)
  • Scalp hair that reaches to the cheeks
  • Cleft palate
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What are the current treatments for Treacher Collins Syndrome?

Hearing loss is treated to ensure better performance in school.

Being followed by a plastic surgeon is very important, because children with this condition may need a series of operations to correct birth defects. Plastic surgery can correct the receding chin and other changes in face structure.

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What are the support groups for Treacher Collins Syndrome?

FACES: The National Craniofacial Association -- www.faces-cranio.org/

What is the outlook (prognosis) for Treacher Collins Syndrome?

Children with this syndrome typically grow to become functioning adults of normal intelligence.

What are the possible complications of Treacher Collins Syndrome?

Complications may include:

  • Feeding difficulty
  • Speaking difficulty
  • Communication problems
  • Vision problems
When should I contact a medical professional for Treacher Collins Syndrome?

This condition is most often seen at birth.

Genetic counseling can help families understand the condition and how to care for the person.

How do I prevent Treacher Collins Syndrome?

Genetic counseling is recommended if you have a family history of this syndrome and wish to become pregnant.

What are the latest Treacher Collins Syndrome Clinical Trials?
Supplementation of Autologous Fat Grafts With Curcumin Preconditioned Adipose-Derived Stem Cells in the Treatment of Facial Contour Deformities

Summary: The aim of this study is to evaluate the comparison of therapeutic potential of curcumin preconditioned adipose derived stem cells (ASCs) enrichment fat grafting, naïve ASCs enrichment fat grafting and conventional fat grafting to correct facial contour deformities that cause aesthetic complications in patients.

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Clinical Evaluation of Biomet Microfixation Devices Used in Facial & Mandibular Surgical Procedures. Facial Plating System, HTR PEKK (Midface) and Mandibular Plates: A Post Market Clinical Follow-up Study

Summary: This study will address medical devices manufactured by Biomet Microfixation (d.b.a. Zimmer Biomet) designed for fixation and stabilization of the facial and mandibular skeleton.

What are the Latest Advances for Treacher Collins Syndrome?
Long-term efficacy of glycopyrrolate on sialorrhea in Goldenhar syndrome: a case report.
Combination CPAP and bilateral hypoglossal nerve stimulation for obstructive sleep apnea in Treacher Collins syndrome: first case report.
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Mandibular Distraction Osteogenesis First for Children With Severe Unilateral Hemifacial Microsomia: Treatment Strategy and Outcomes.
Who are the sources who wrote this article ?

Published Date: July 30, 2021
Published By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

What are the references for this article ?

Dhar V. Syndromes with oral manifestations. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 337.

Katsanis SH, Jabs EW, Adam MP, et al. Treacher Collins syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. Seattle, WA: University of Washington, Seattle; 1993-2022. PMID: 20301704 pubmed.ncbi.nlm.nih.gov/20301704/. Updated August 20, 2020. Accessed November 1, 2021.

Posnick JC, Tiwana PS, Panchal NH. Treacher Collins syndrome: evaluation and treatment. In: Fonseca RJ, ed. Oral and Maxillofacial Surgery. 3rd ed. St Louis, MO: Elsevier; 2018:chap 40.